Test Price
2,800 AED✅ Home Collection Available
GBA Gene Gaucher Disease Type 3 Genetic Test | Next-Generation Sequencing | 2800 AED
Executive Summary & Core Metrics
Executive Summary:
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited NGS processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This definitive Next‑Generation Sequencing (NGS) test analyzes the entire GBA gene to diagnose Gaucher disease type 3, the chronic neuronopathic form, with highest sensitivity. It replaces less accurate enzyme assays, providing direct genetic evidence for clinical decision‑making, early intervention, and family planning.
| Feature | Our Test (GBA NGS) | Closest Alternative (Enzyme Assay) |
|---|---|---|
| Precision | >99.9% – detects all pathogenic variants including novel | ~85% – may miss carriers or mild mutations |
| Method | NGS with full gene sequencing & copy number analysis | Fluorimetric glucocerebrosidase activity measurement |
| Speed | 3–4 Weeks definitive molecular diagnosis | 2 Weeks – often requires GBA sequencing for confirmation |
Physician Insight & Safety Protocols
"As a clinical geneticist, I emphasize that a positive GBA result must always be correlated with the patient’s full neurological and hematological picture; this genetic finding alone does not dictate the entire clinical journey. Early intervention guided by a multidisciplinary team can significantly impact quality of life. Please remember, never adjust or discontinue any prescribed medication without a thorough review by your treating physician." – Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Medication Safety Advisory
⚠ Do not discontinue prescribed medication without consulting your doctor. Genetic test results are not a substitute for ongoing clinical management.
Safety & Exclusion Criteria
- Exclusions: Patients who are hemodynamically unstable or unable to provide a blood/DNA sample safely. This test is not designed for acute emergency diagnosis.
- ER Red Flags: Sudden onset of severe neurological symptoms (e.g., intractable seizures, rapid loss of consciousness, acute respiratory distress) require immediate emergency care, not a scheduled genetic test.
Patient FAQ & Clinical Guidance
1. What does the GBA NGS test diagnose, and who should consider it?
This NGS‑based genetic test definitively diagnoses Gaucher disease type 3 by identifying pathogenic GBA gene variants with 99.9% sensitivity. It is recommended for children and adults presenting with neurological regression, organomegaly, bone pain, or hematological abnormalities, as well as at‑risk family members seeking carrier status or prenatal planning.
2. How is the sample collected and what is the turnaround time?
A simple blood draw, extracted DNA, or one drop of blood on an FTA card can be used, with results delivered in 3 to 4 weeks. Our ISO‑certified phlebotomists collect the sample during the home visit, ensure cold‑chain stability, and transport it directly to our DHA‑licensed laboratory. A pre‑genetic counselling session is mandatory to document the family pedigree.
3. Is home collection available throughout the UAE and will my insurance cover the cost?
Yes, we offer DHA‑compliant VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection across the UAE from 8 AM to 11 PM, with direct insurance billing support via WhatsApp. Our team verifies your insurance coverage before the appointment; contact +971 54 548 8731 with your policy details. The 2800 AED fee often qualifies for direct billing with leading UAE networks.
UAE Regulatory & Data Privacy Adherence
This service operates in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data is processed under strict confidentiality within our DHA-licensed laboratory (License No. 1143) at DNA Labs UAE. Processed under ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139). All clinical decisions must be made by a DHA‑licensed physician.
Clinical & Logistical Metadata
| Test Name | GBA Gene Gaucher Disease Type 3 Genetic Test (Next-Generation Sequencing) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) – Full GBA Gene Sequencing & Copy Number Analysis |
| ICD-10-CM Code | E75.22 |
| LOINC Code | 90528-6 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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ISMS 27001:2022
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All reports reviewed by DHA-Certified physicians